遗传性神经系统离子通道病基因治疗的研究进展

目的遗传性神经系统离子通道病现有的治疗方法往往难以控制病情或者患者耐受度较低,因此探索新的治疗方法势在必行。基因治疗在多项研究中显示可能应用于神经系统疾病,并可能成为未来遗传性神经系统离子通道病的有效治疗手段。同时,光遗传学、化学遗传学方法、基因编辑技术的不断进步也为遗传性神经系统离子通道病的基因治疗提供了良好的发展基础。我们将就遗传性神经系统离子通道病基因治疗的方法机制、转导载体、启动子及给药途径作一综述。     

术中 X-线定位在神经内镜切除甲介型蝶窦垂体瘤手术中的应用简

目的探讨术中x-线定位在经神经内镜下甲介型蝶窦垂体瘤手术的应用。方法回顾性分析6例甲介型蝶窦垂体瘤病人的临床资料,均采用神经内镜下垂体瘤切除结合术中X-线定位方法。结果术中X-线定位准确4例;2例发生纵向偏差,均纠正。肿瘤全切除5例,次全切除1例。术后激素水平正常,视力视野改善。出现暂时性尿崩1例,治疗后痊愈。无脑脊液鼻漏、垂体功能低下、蝶窦炎发生,无死亡病例。6例病人随访3年,均无复发。结论神经内镜技术结合术中X-线定位是一种治疗甲介型蝶窦垂体瘤的安全、有效方法。     

风电项目光影影响分析方法

风电作为一种清洁能源,是近年来国家鼓励发展的能源项目,以往主要分布在人烟稀少地区,但随着规模的发展,部分风电场区已经涉及到零星居民居住地,随之而来的光影影响不可忽视。     

Therapeutic experience with primary liposarcoma from the sigmoid mesocolon accompanied with well-differentiated liposarcomas in the pelvis

Multifocal liposarcoma with different histological types is rare, especially that originating from the mesentery. We herein report a case of primary myxoid liposarcoma from the sigmoid mesocolon that was accompanied with well-differentiated liposarcomas in the pelvis. The location, the fat signal and the relationship with adjacent organs of the liposarcomas were well shown in the axial, coronal and sagittal dimensions of MRI, giving a comprehensive and specific image before surgery. To alleviate the patient’s symptoms and mental stress, a laparotomy was performed. The tumors were all completely excised with macroscopic free margins. The final histopathological report showed that the tumor in the sigmoid mesocolon was a pure myxoid liposarcoma, while the pelvic tumors were spindle cell liposarcomas, a special type of well-differentiated liposarcoma. According to the AJCC staging system, they were all stage IIB. No further adjuvant therapy was performed. Close follow-up after the surgery has been performed, and the patient has remained healthy without any evidence of recurrence or metastasis for 17 months after the surgery.     

家庭肠内营养对改善晚期胃癌患者生活质量的应用价值

目的研究家庭肠内营养（HEN）对晚期胃癌患者改善生活质量的意义。方法回顾性分析浙江省人民医院胃肠外科2010年6月1日至2012年6月1日连续收治的60例无法手术切除及复发转移的晚期胃癌患者的病历资料,根据是否进行HEN分为肠内营养（EN）组（25例）和对照组（35例）。EN组营养支持方式包括经空肠造瘘管EN、经鼻胃肠管完全或部分EN;对照组中存在胃癌伴梗阻的患者进行全肠外营养（TPN）,其余患者完全经口饮食。在持续1年的随访过程中,分别于第1、3、6和12月进行Kamofsky评分和Spitzer指数测定。第6月时行EORTCQLQ—c30评分。全组患者均接受FLOFOX4方案（奥沙利铂、四氢叶酸钙、氟尿嘧啶）静脉化疗。结果两组患者在基线资料方面差异无统计学意义。1年随访期间,两组共有53例患者死亡,其中EN组21例,对照组32例。KamoHky评分结果显示,EN组在第3、6、12月的评分结果分别为平均57．4、39．6和28．2,明显优于对照组的平均45．3、29．2和20．1（分别为P=0．041、P=0．012和P=0．015）。Spitzer评分结果显示,EN组在第3、6、12月的评分结果分别为5．12、4．04和2．54,也明显优于对照组的4．32、3．21和1．97（分别为P=0．048、P=0．035和P=0．024）。EROTCQLQ-30评分结果显示,EN组在功能量表方面同样均明显优于对照组（均P〈0．05）,“呼吸费力”、“疼痛”和“疲劳”阳性症状较对照组轻（分别为P=0．025、P=0．044和P=0．016）;但“腹泻”症状较对照组明显（P=0．047）。结论HEN作为一项营养干预措施,能在有限的生存期内改善晚期胃癌患者的生活质量。     

Development of microsatellite markers for the critically endangered frog Telmatobufo bullocki and cross-species amplification in two related species

Fifteen microsatellite markers were developed for Telmatobufo bullocki, a critically endangered frog species from Chile. Genetic diversity that was assessed in 29 individuals from one location showed 3–19 alleles per locus. These markers were then tested for cross-species amplification in two related and similarly threatened species. The markers will be used in genetic studies aiding the management and conservation of T. bullocki.